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X-linked dominant Charcot-Marie-Tooth neuropathy with 15 cases in a family genetic linkage study.
Muscle Nerve. 1988 Nov; 11(11):1154-6.MN

Abstract

A large CMT family with 5 affected males and 10 affected females of 37 members in four generations was investigated by recombinant DNA studies. The proband patient in his original description of the pedigree indicated male-to- male transmission in one of his relatives, suggesting autosomal dominant inheritance. The genetic linkage study between the CMT locus and the loci of six markers mapped on chromosome 1 (FY, APCS, AT3, REN, APOA2, and GBA) gave negative results. These findings prompted further pedigree investigation which proved that male-to-male transmission was not present. A genetic linkage study with DXYS1, which is a DNA marker mapped on the long arm of the chromosome X, revealed tight linkage with z = 3.15 at theta = 0.10.

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Authors+Show Affiliations

Ionasescu VV
Department of Pediatrics, University of Iowa Hospitals, Iowa City 52242.
Burns TL
No affiliation info available
Searby C
No affiliation info available
Ionasescu R
No affiliation info available

MeSH

AdultCharcot-Marie-Tooth DiseaseDNAFemaleGenetic LinkageGenetic MarkersHumansMaleMuscular Atrophy, SpinalPedigree

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

3226432

Citation

Ionasescu, V V., et al. "X-linked Dominant Charcot-Marie-Tooth Neuropathy With 15 Cases in a Family Genetic Linkage Study." Muscle & Nerve, vol. 11, no. 11, 1988, pp. 1154-6.
Ionasescu VV, Burns TL, Searby C, et al. X-linked dominant Charcot-Marie-Tooth neuropathy with 15 cases in a family genetic linkage study. Muscle Nerve. 1988;11(11):1154-6.
Ionasescu, V. V., Burns, T. L., Searby, C., & Ionasescu, R. (1988). X-linked dominant Charcot-Marie-Tooth neuropathy with 15 cases in a family genetic linkage study. Muscle & Nerve, 11(11), 1154-6.
Ionasescu VV, et al. X-linked Dominant Charcot-Marie-Tooth Neuropathy With 15 Cases in a Family Genetic Linkage Study. Muscle Nerve. 1988;11(11):1154-6. PubMed PMID: 3226432.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - X-linked dominant Charcot-Marie-Tooth neuropathy with 15 cases in a family genetic linkage study. AU - Ionasescu,V V, AU - Burns,T L, AU - Searby,C, AU - Ionasescu,R, PY - 1988/11/1/pubmed PY - 1988/11/1/medline PY - 1988/11/1/entrez SP - 1154 EP - 6 JF - Muscle & nerve JO - Muscle Nerve VL - 11 IS - 11 N2 - A large CMT family with 5 affected males and 10 affected females of 37 members in four generations was investigated by recombinant DNA studies. The proband patient in his original description of the pedigree indicated male-to- male transmission in one of his relatives, suggesting autosomal dominant inheritance. The genetic linkage study between the CMT locus and the loci of six markers mapped on chromosome 1 (FY, APCS, AT3, REN, APOA2, and GBA) gave negative results. These findings prompted further pedigree investigation which proved that male-to-male transmission was not present. A genetic linkage study with DXYS1, which is a DNA marker mapped on the long arm of the chromosome X, revealed tight linkage with z = 3.15 at theta = 0.10. SN - 0148-639X UR - https://www.unboundmedicine.com/medline/citation/3226432/X_linked_dominant_Charcot_Marie_Tooth_neuropathy_with_15_cases_in_a_family_genetic_linkage_study_ L2 - https://doi.org/10.1002/mus.880111108 DB - PRIME DP - Unbound Medicine ER -